ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
AR-CMT2 with acrodystrophy Orphanet_90119
HMSN with acrodystrophy Orphanet_90119
Peripheral neuropathy and optic atrophy Orphanet_90120
Hereditary motor and sensory neuropathy type 6 Orphanet_90120
Hereditary motor and sensory neuropathy type VI Orphanet_90120
Hereditary motor and sensory neuropathy with acrodystrophy Orphanet_90119
Hereditary motor and sensory neuropathy, Okinawa type Orphanet_90117
Hereditary motor and sensory neuropathy, proximal type Orphanet_90117
Severe early-onset axonal neuropathy due to MFN2 deficiency Orphanet_90118
Lipoatrophy caused by injected drug Orphanet_90157
Autosomal dominant intermediate Charcot-Marie-Tooth disease Orphanet_90114
Pressure-induced localized lipoatrophy Orphanet_90160
Drug-induced localized lipodystrophy Orphanet_90157
Idiopathic localized lipodystrophy Orphanet_90158
Panniculitis-induced localized lipodystrophy Orphanet_90159